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AMIR HOSSEIN SAEIDIAN

Address2450 HOLCOMBE
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. P?rez Baca MDR, Palomares-Bralo M, Vanhooydonck M, Hamerlinck L, D'haene E, Leimbacher S, Jacobs EZ, De Cock L, D'haenens E, Dheedene A, Malfait Z, Vantomme L, Silva A, Rooney K, Zhao X, Saeidian AH, Owen NM, Santos-Simarro F, Lleuger-Pujol R, Garc?a-Mi?a?r S, Losantos-Garc?a I, Menten B, Gestri G, Ragge N, ZFHX4 consortium, Sadikovic B, Bogaert E, Vleminckx K, Naert T, Syx D, Callewaert B, Vergult S. Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder. Am J Hum Genet. 2025 Jun 05; 112(6):1388-1414. PMID: 40367947.
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    2. Sabaie H, Taghavi Rad A, Shabestari M, Habibi D, Saadattalab T, Seddiq S, Saeidian AH, Zahedi AS, Sanoie M, Vahidnezhad H, Zarkesh M, Foroutani L, Hakonarson H, Azizi F, Hedayati M, Daneshpour MS, Akbarzadeh M. Mitochondrial DNA Copy Number as a Hidden Player in the Progression of Multiple Sclerosis: A Bidirectional Two-Sample Mendelian Randomization Study. Mol Neurobiol. 2025 Apr 30. PMID: 40307428.
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    3. Biglari S, Youssefian L, Tabatabaiefar MA, Saeidian AH, Abtahi-Naeini B, Khorram E, Sherkat R, Moghaddam AS, Mohaghegh F, Rahimi M, Rahimi H, Babaei S, Shahrooei M, Mozafari N, Zaresharifi S, Vahidnezhad F, Homayouni V, Tsoi LC, Gudjonsson JE, Hakonarson H, Casanova JL, Jouanguy E, B?ziat V, Zhang Q, Cobat A, Vahidnezhad H. DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia. J Clin Immunol. 2025 Mar 28; 45(1):85. PMID: 40153067; PMCID: PMC11953147.
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    4. Riahi P, Saeidian AH, Tenesa A, Hogan CT, March M, Guity K, Roudbar MA, Zahedi A, Zarkesh M, Neshati F, Hedayati M, Azizi F, Hakonarson H, Daneshpour MS, Akbarzadeh M. Genetic and environmental contribution to phenotypic resemblance between Iranian couples: Tehran Cardiometabolic and Genetic Study (TCGS). Heliyon. 2025 Feb 15; 11(3):e42401. PMID: 39995917; PMCID: PMC11849086.
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    5. Biglari S, Nikuei P, Mir A, Vahidnezhad H, Youssefian L, Moghaddam AS, Tabatabaiefar MA, Saeidian AH, Khorram E, Fard MAF, Farbood Z, Shahrooei M, Khorshid HRK, Esmaeilzadeh E. Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clin Genet. 2025 Mar; 107(3):366-368. PMID: 39702880.
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    6. Saeidian AH, March ME, Youssefian L, Watson DJ, Bhandari E, Wang X, Zhao X, Owen NM, Strong A, Harr MH, CAG Secondary Finding Consortium, Bhoj E, Zackai E, Vahidnezhad H, Gudjonsson J, Cederbaum SD, Deignan JL, Glessner J, Grody WW, Hakonarson H, Saeidian AH, March ME, Youssefian L, Watson DJ, Bhandari E, Wang X, Zhao X, Owen NM, Strong A, Harr MH, Bhoj E, Zackai E, Vahidnezhad H, Gudjonsson JE, Cederbaum SD, Deignan JL, Glessner J, Grody WW, Hakonarson H. Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants. Genet Med. 2024 Nov; 26(11):101225. PMID: 39096151.
      Citations:    Fields:    Translation:Humans
    7. Oliva M, Sarkar MK, March ME, Saeidian AH, Mentch FD, Hsieh CL, Tang F, Uppala R, Patrick MT, Li Q, Bogle R, Kahlenberg JM, Watson D, Glessner JT, Tsoi LC, Hakonarson H, Gudjonsson JE, Smith KM, Riley-Gillis B. Multi-ancestry Genome-Wide Association Meta-Analysis Identifies Novel Loci in Atopic Dermatitis. medRxiv. 2024 Jun 19. PMID: 38946956; PMCID: PMC11213042.
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    8. Youssefian L, Saeidian AH, Saffarian Z, Ariamanesh M, Abdollahimajd F, Molkara S, Shahidi-Dadras M, Diab R, Vahidnezhad F, Zeinali S, B?ziat V, Jouanguy E, Casanova JL, Uitto J, Vahidnezhad H. Whole-Transcriptome Sequencing-Based Profiling of the Cutaneous Virome in Patients with Secondary Immunodeficiency. JID Innov. 2024 Jul; 4(4):100278. PMID: 38994235; PMCID: PMC11238184.
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    9. Habibi D, Teymoori F, Ebrahimi N, Fateh ST, Najd-Hassan-Bonab L, Saeidian AH, Soleymani Taloubaghi A, Asgarian S, Hosseinpanah F, Hakonarson H, Azizi F, Hedayati M, Daneshpour MS, Akbarzadeh M, Mansourian M. Causal effect of serum 25 hydroxyvitamin D concentration on cardioembolic stroke: Evidence from two-sample Mendelian randomization. Nutr Metab Cardiovasc Dis. 2024 May; 34(5):1305-1313. PMID: 38508993.
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    10. Akbarzadeh M, Riahi P, Saeidian AH, Zarkesh M, Masjoudi S, Asgarian S, Guity K, Moheimani H, Masoudi H, Roudbar MA, Khalili D, Hosseinpanah F, Barzin M, Hogan CT, Hakonarson H, Hedayati M, Daneshpour MS, Azizi F. The Tehran longitudinal family-based cardiometabolic cohort study sheds new light on dyslipidemia transmission patterns. Sci Rep. 2024 02 27; 14(1):4739. PMID: 38413617; PMCID: PMC10899171.
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    11. Qu HQ, Glessner JT, Qu J, Liu Y, Watson D, Chang X, Saeidian AH, Qiu H, Mentch FD, Connolly JJ, Hakonarson H. High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations. Transl Res. 2024 Apr; 266:49-56. PMID: 37989391.
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    12. Biglari S, Moghaddam AS, Tabatabaiefar MA, Sherkat R, Youssefian L, Saeidian AH, Vahidnezhad F, Tsoi LC, Gudjonsson JE, Hakonarson H, Casanova JL, B?ziat V, Jouanguy E, Vahidnezhad H. Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review. Genet Med. 2024 02; 26(2):101028. PMID: 37978863; PMCID: PMC10922824.
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    13. Liu Y, Qu HQ, Chang X, Mentch FD, Qiu H, Nguyen K, Wang X, Saeidian AH, Watson D, Glessner J, Hakonarson H. Genomic information of children with malignant brain tumors for the prediction of length of hospitalization. Cancer Commun (Lond). 2023 11; 43(11):1271-1274. PMID: 37559342; PMCID: PMC10631481.
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    14. Liu Y, Qu HQ, Chang X, Mentch FD, Qiu H, Wang X, Saeidian AH, Watson D, Glessner J, Hakonarson H. Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development. Mol Cancer. 2023 08 05; 22(1):126. PMID: 37543594; PMCID: PMC10403830.
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    15. Saeidian AH, Youssefian L, Naji M, Mahmoudi H, Barnada SM, Huang C, Naghipoor K, Hozhabrpour A, Park JS, Manzo Margiotta F, Vahidnezhad F, Saffarian Z, Kamyab-Hesari K, Tolouei M, Faraji N, Azimi SZ, Namdari G, Mansouri P, Casanova JL, B?ziat V, Jouanguy E, Uitto J, Vahidnezhad H. Whole transcriptome-based skin virome profiling in typical epidermodysplasia verruciformis reveals a-, ?-, and ?-HPV infections. JCI Insight. 2023 03 08; 8(5). PMID: 36602881; PMCID: PMC10077487.
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    16. Liu Y, Qu HQ, Chang X, Mentch FD, Qiu H, Nguyen K, Wang X, Saeidian AH, Watson D, Glessner J, Hakonarson H. Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing. Biomark Res. 2022 Nov 16; 10(1):84. PMID: 36384586; PMCID: PMC9670520.
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    17. Park JS, Saeidian AH, Youssefian L, Hsu S, Vahidnezhad H, Uitto J. Acquired ichthyosis, asteatotic dermatitis or xerosis? An update on pathoetiology and drug-induced associations. J Eur Acad Dermatol Venereol. 2023 Jan; 37(1):47-56. PMID: 36165597.
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    18. Park JS, Saeidian AH, Youssefian L, Kondratuk KE, Pride HB, Vahidnezhad H, Uitto J. Inherited ichthyosis as a paradigm of rare skin disorders: Genomic medicine, pathogenesis, and management. J Am Acad Dermatol. 2023 12; 89(6):1215-1226. PMID: 35963288.
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    19. Vahidnezhad H, Youssefian L, Harvey N, Tavasoli AR, Saeidian AH, Sotoudeh S, Varghaei A, Mahmoudi H, Mansouri P, Mozafari N, Zargari O, Zeinali S, Uitto J. Mutation update: The spectra of PLEC sequence variants and related plectinopathies. Hum Mutat. 2022 12; 43(12):1706-1731. PMID: 35815343; PMCID: PMC9771971.
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    20. Harvey N, Youssefian L, Saeidian AH, Vahidnezhad H, Uitto J. Pathomechanisms of epidermolysis bullosa: Beyond structural proteins. Matrix Biol. 2022 06; 110:91-105. PMID: 35504439.
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    21. Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q. ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification. PLoS Genet. 2022 04; 18(4):e1010192. PMID: 35482848; PMCID: PMC9089899.
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    22. Saeidian AH, Youssefian L, Huang CY, Palizban F, Naji M, Saffarian Z, Mahmoudi H, Goodarzi A, Sotoudeh S, Vahidnezhad F, Amani M, Tavakoli N, Ajami A, Mozafarpoor S, Teimoorian M, Dorgaleleh S, Shokri S, Shenagari M, Abedi N, Zeinali S, Fortina P, B?ziat V, Jouanguy E, Casanova JL, Uitto J, Vahidnezhad H. Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions. JCI Insight. 2022 04 22; 7(8). PMID: 35316210; PMCID: PMC9089792.
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    23. Youssefian L, Saeidian AH, Tavasoli AR, Kalamati E, Naghipoor K, Hozhabrpour A, Mesdaghi M, Saffarian Z, Mahmoudi H, Nabavi M, Shokri S, Zeinali S, B?ziat V, Casanova JL, Jouanguy E, Uitto J, Vahidnezhad H. Recalcitrant Cutaneous Warts in a Family with Inherited ICOS Deficiency. J Invest Dermatol. 2022 09; 142(9):2435-2445. PMID: 35276224; PMCID: PMC9391267.
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    24. Youssefian L, Khodavaisy S, Khosravi-Bachehmir F, Park JS, Saeidian AH, Mahmoudi H, Saffarian Z, Naraghi ZS, Kamyab-Hesari K, Zeinali S, Vahidnezhad H, Uitto J. Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP. J Eur Acad Dermatol Venereol. 2022 Mar; 36(3):472-479. PMID: 34863005.
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    25. Vahidnezhad H, Youssefian L, Saeidian AH, Ziaee V, Mahmoudi H, Parvaneh N, Ashjaei B, Shahrokh S, Kamyab Hesari K, Soltani Zangbar M, Yousefi M, Zeinali S, Uitto J. Homozygous MEFV Gene Variant and Pyrin-Associated Autoinflammation With Neutrophilic Dermatosis: A Family With a Novel Autosomal Recessive Mode of Inheritance. JAMA Dermatol. 2021 Dec 01; 157(12):1466-1471. PMID: 34643647; PMCID: PMC8515259.
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    26. Saeidian AH, Youssefian L, Huang J, Touati A, Vahidnezhad H, Kowal L, Caffet M, Wurst T, Singh J, Snook AE, Ryu E, Fortina P, Terry SF, Schoenecker JG, Uitto J, Li Q. Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort. Genet Med. 2022 01; 24(1):75-86. PMID: 34906475; PMCID: PMC8943706.
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    27. Uitto J, Saeidian AH, Youssefian L, Saffarian Z, Casanova JL, B?ziat V, Jouanguy E, Vahidnezhad H. Recalcitrant Warts, Epidermodysplasia Verruciformis, and the Tree-Man Syndrome: Phenotypic Spectrum of Cutaneous Human Papillomavirus Infections at the Intersection of Genetic Variability of Viral and Human Genomes. J Invest Dermatol. 2022 05; 142(5):1265-1269. PMID: 34843682; PMCID: PMC9038624.
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    28. B?ziat V, Rapaport F, Hu J, Titeux M, Bonnet des Claustres M, Bourgey M, Griffin H, Bandet ?, Ma CS, Sherkat R, Rokni-Zadeh H, Louis DM, Changi-Ashtiani M, Delmonte OM, Fukushima T, Habib T, Guennoun A, Khan T, Bender N, Rahman M, About F, Yang R, Rao G, Rouzaud C, Li J, Shearer D, Balogh K, Al Ali F, Ata M, Dabiri S, Momenilandi M, Nammour J, Alyanakian MA, Leruez-Ville M, Guenat D, Materna M, Marcot L, Vladikine N, Soret C, Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J, Catherinot ?, Navabi SS, Zarhrate M, Woodley DT, Jeljeli M, Abraham T, Belkaya S, Lorenzo L, Rosain J, Bayat M, Lanternier F, Lortholary O, Zakavi F, Gros P, Orth G, Abel L, Pr?tet JL, Fraitag S, Jouanguy E, Davis MM, Tangye SG, Notarangelo LD, Marr N, Waterboer T, Langlais D, Doorbar J, Hovnanian A, Christensen N, Bossuyt X, Shahrooei M, Casanova JL. Humans with inherited T?cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. Cell. 2021 07 08; 184(14):3812-3828.e30. PMID: 34214472; PMCID: PMC8329841.
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    29. Uitto J, Saeidian AH, Youssefian L, Vahidnezhad H. Interpretation of genomic sequence variants in heritable skin diseases: A primer for clinicians. J Am Acad Dermatol. 2023 09; 89(3):569-576. PMID: 34118299; PMCID: PMC8655317.
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    30. Dasgeb B, Leila Y, Saeidian AH, Kang J, Shi W, Shoenberg E, Ertel A, Fortina P, Vahidnezhad H, Uitto J. Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy. Int J Dermatol Venereol. 2021 Jun; 4(2):70-75. PMID: 34278326; PMCID: PMC8265835.
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    31. Youssefian L, Saeidian AH, Palizban F, Bagherieh A, Abdollahimajd F, Sotoudeh S, Mozafari N, Farahani RA, Mahmoudi H, Babashah S, Zabihi M, Zeinali S, Fortina P, Salas-Alanis JC, South AP, Vahidnezhad H, Uitto J. Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity. Clin Chem. 2021 06 01; 67(6):876-888. PMID: 33969388; PMCID: PMC8167339.
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    32. Kiny? ?, Kov?cs AL, Degrell P, K?lm?n E, Nagy N, K?rp?ti S, Gyulai R, Saeidian AH, Youssefian L, Vahidnezhad H, Uitto J. Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement. J Invest Dermatol. 2021 11; 141(11):2752-2756. PMID: 34023363.
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    33. Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, McGrath JA, Uitto J. Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. Matrix Biol. 2021 05; 99:43-57. PMID: 34004352.
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    34. Youssefian L, Niaziorimi F, Saeidian AH, South AP, Khosravi-Bachehmir F, Khodavaisy S, Vahidnezhad H, Uitto J. Knockdown of SDR9C7 Impairs Epidermal Barrier Function. J Invest Dermatol. 2021 07; 141(7):1754-1764.e1. PMID: 33422619.
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    35. Vahidnezhad H, Youssefian L, Faghankhani M, Mozafari N, Saeidian AH, Niaziorimi F, Abdollahimajd F, Sotoudeh S, Rajabi F, Mirsafaei L, Sani ZA, Liu L, Guy A, Zeinali S, Kariminejad A, Ho RT, McGrath JA, Uitto J. Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility. Sci Rep. 2020 12 10; 10(1):21622. PMID: 33303784; PMCID: PMC7729882.
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    36. Li D, Ryu E, Saeidian AH, Youssefian L, Oliphant E, Terry SF, Tong PL, Uitto J, Haass NK, Li Q. GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. Br J Dermatol. 2021 06; 184(6):1170-1174. PMID: 33000479; PMCID: PMC8935359.
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    37. Touati A, Saeidian AH, Youssefian L, Faghankhani M, Niaziorimi F, Pajouhanfar S, Vahidnezhad H, Uitto J. The matriptase-prostasin proteolytic cascade in dermatologic diseases. Exp Dermatol. 2020 07; 29(7):580-587. PMID: 32347581.
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    38. Saeidian AH, Youssefian L, Vahidnezhad H, Uitto J. Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for?Diagnosis of Monogenic Disorders. J Invest Dermatol. 2020 06; 140(6):1117-1126.e1. PMID: 32446329; PMCID: PMC8722382.
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    39. Saeidian AH, Cohen-Nowak A, O'Donnell M, Shalabi D, McGuinn KP, Youssefian L, Vahidnezhad H, Niaziorimi F, Dasgeb B, Kasper DA, Lee JB, Uitto J, Nikbakht N. Linear basal cell nevus with a novel mosaic PTCH1 mutation. Exp Dermatol. 2020 06; 29(6):531-534. PMID: 32298489.
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    40. Uitto J, Youssefian L, Saeidian AH, Vahidnezhad H. Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis. Acta Derm Venereol. 2020 Mar 25; 100(7):adv00095. PMID: 32147742; PMCID: PMC9128965.
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    41. Ziaee V, Youssefian L, Faghankhani M, Jazayeri A, Saeidian AH, Vahidnezhad H, Uitto J. Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA). J Clin Immunol. 2020 05; 40(4):637-642. PMID: 32170523.
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    42. Saeidian AH, Vahidnezhad H, Youssefian L, Sotudeh S, Sargazi M, Zeinali S, Uitto J. Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing. Mol Genet Genomic Med. 2019 11; 7(11):e975. PMID: 31560841; PMCID: PMC6825862.
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    43. Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, Higashino T, Scott W, Tierney C, Simpson MA, Desomchoke R, Youssefian L, SaeIdian AH, Vahidnezhad H, Bisquera A, Ravenscroft J, Moss C, O'Toole EA, Burrows N, Leech S, Jones EA, Lim D, Ilchyshyn A, Goldstraw N, Cork MJ, Darne S, Uitto J, Martinez AE, Mellerio JE, McGrath JA. Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. Br J Dermatol. 2020 03; 182(3):729-737. PMID: 31168818.
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    44. Li Q, Philip VM, Stearns TM, Bubier JA, King BL, Low BE, Wiles MV, Saeidian AH, Sundberg BA, Uitto J, Sundberg JP. Quantitative Trait Locus and Integrative Genomics Revealed Candidate Modifier Genes for Ectopic Mineralization in Mouse Models of Pseudoxanthoma Elasticum. J Invest Dermatol. 2019 12; 139(12):2447-2457.e7. PMID: 31207231; PMCID: PMC6874750.
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    45. Youssefian L, Vahidnezhad H, Yousefi M, Saeidian AH, Azizpour A, Touati A, Nikbakht N, Hesari KK, Adib-Sereshki MM, Zeinali S, Mansoori B, Jazayeri A, Karamzadeh R, Fortina P, Jouanguy E, Casanova JL, Uitto J. Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma. Clin Infect Dis. 2019 05 17; 68(11):1938-1941. PMID: 30778533; PMCID: PMC7317279.
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    46. Youssefian L, Vahidnezhad H, Saeidian AH, Pajouhanfar S, Sotoudeh S, Mansouri P, Amirkashani D, Zeinali S, Levine MA, Peris K, Colombo R, Uitto J. Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. J Hepatol. 2019 08; 71(2):366-370. PMID: 30954460; PMCID: PMC7285838.
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    47. Youssefian L, Vahidnezhad H, Saeidian AH, Touati A, Sotoudeh S, Mahmoudi H, Mansouri P, Daneshpazhooh M, Aghazadeh N, Hesari KK, Basiri M, Londin E, Kumar G, Zeinali S, Fortina P, Uitto J. Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families. Hum Mutat. 2019 03; 40(3):288-298. PMID: 30578701.
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    48. Youssefian L, Vahidnezhad H, Saeidian AH, Mahmoudi H, Karamzadeh R, Kariminejad A, Huang J, Li L, Jannace TF, Fortina P, Zeinali S, White TW, Uitto J. A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma. Hum Mutat. 2019 02; 40(2):217-229. PMID: 30431684; PMCID: PMC6481180.
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    49. Vahidnezhad H, Youssefian L, Saeidian AH, Mansoori B, Jazayeri A, Azizpour A, Hesari KK, Yousefi M, Zeinali S, Jouanguy E, Casanova JL, Uitto J. A CIB1 Splice-Site Founder Mutation in Families with?Typical Epidermodysplasia Verruciformis. J Invest Dermatol. 2019 05; 139(5):1195-1198. PMID: 30503243.
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    50. Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J. Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency. Matrix Biol. 2019 08; 81:91-106. PMID: 30463024.
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    51. Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J. Phenotypic Spectrum of Epidermolysis Bullosa: The Paradigm of Syndromic versus Non-Syndromic Skin Fragility Disorders. J Invest Dermatol. 2019 03; 139(3):522-527. PMID: 30393082.
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    52. Shirzadeh T, Saeidian AH, Bagherian H, Salehpour S, Setoodeh A, Alaei MR, Youssefian L, Samavat A, Touati A, Fallah MS, Vahidnezhad H, Karimipoor M, Azadmehr S, Raeisi M, Bandehi Sarhadi A, Zafarghandi Motlagh F, Jamali M, Zeinali Z, Abiri M, Zeinali S, Additional individual contributors. Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population. J Inherit Metab Dis. 2018 11; 41(6):1159-1167. PMID: 30159852.
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    53. Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa. Hum Mutat. 2018 10; 39(10):1349-1354. PMID: 30016581.
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    54. de Jong SJ, Cr?quer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL. The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to ?-papillomaviruses. J Exp Med. 2018 09 03; 215(9):2289-2310. PMID: 30068544; PMCID: PMC6122964.
      Citations:    
    55. Youssefian L, Vahidnezhad H, Mahmoudi H, Saeidian AH, Daneshpazhooh M, Kamyab Hesari K, Zeinali S, de Jong SJ, Orth G, Blanchet-Bardon C, Jouanguy E, Casanova JL, Uitto J. Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis. J Invest Dermatol. 2019 01; 139(1):241-244. PMID: 30036492.
      Citations:    
    56. Youssefian L, Vahidnezhad H, Touati A, Ziaee V, Saeidian AH, Pajouhanfar S, Zeinali S, Uitto J. The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series. BMC Med Genet. 2018 05 25; 19(1):87. PMID: 29801470; PMCID: PMC5970508.
      Citations:    
    57. Saeidian AH, Youssefian L, Moreno Trevino MG, Fortuna G, Vahidnezhad H, Atanasova VS, Uitto J, Salas-Alanis JC, South AP. Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico. Clin Exp Dermatol. 2018 Jul; 43(5):579-584. PMID: 29473190.
      Citations:    
    58. Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Touati A, Abiri M, Sotoudeh S, Norouz-Zadeh S, Amirinezhad N, Mozafari N, Daneshpazhooh M, Mahmoudi H, Hamid M, Bradfield JP, Kim CE, Hakonarson H, Uitto J. Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Exp Dermatol. 2019 10; 28(10):1118-1121. PMID: 29364557.
      Citations:    
    59. Saeidian AH, Youssefian L, Rosales-Solis GM, Vahidnezhad H, Atanasova VS, Uitto J, South AP, Salas-Alanis JC. First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru. Clin Exp Dermatol. 2018 Aug; 43(6):719-722. PMID: 29427316.
      Citations:    
    60. Youssefian L, Touati A, Vahidnezhad H, Saeidian AH, Sotoudeh S, Zeinali S, Uitto J. Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects. Br J Dermatol. 2018 03; 178(3):e219-e221. PMID: 29023646.
      Citations:    
    61. Youssefian L, Touati A, Saeidian AH, Zargari O, Zeinali S, Vahidnezhad H, Uitto J. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. Orphanet J Rare Dis. 2017 12 06; 12(1):176. PMID: 29208051; PMCID: PMC5717823.
      Citations:    
    62. Vahidnezhad H, Youssefian L, Saeidian AH, Mahmoudi H, Touati A, Abiri M, Kajbafzadeh AM, Aristodemou S, Liu L, McGrath JA, Ertel A, Londin E, Kariminejad A, Zeinali S, Fortina P, Uitto J. Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. Matrix Biol. 2018 03; 66:22-33. PMID: 29138120.
      Citations:    
    63. Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Mahmoudi H, Daneshpazhooh M, Aghazadeh N, Adams R, Ghanadan A, Zeinali S, Fortina P, Uitto J. Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes. Eur J Hum Genet. 2017 11; 25(11):1282-1285. PMID: 28875980; PMCID: PMC5643971.
      Citations:    
    64. Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Abiri M, Barzegar M, Aghazadeh N, Mahmoudi H, Norouz-Zadeh S, Hamid M, Zahabiyon M, Bagherian H, Zeinali S, Fortina P, Uitto J. Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications. J Invest Dermatol. 2017 12; 137(12):2649-2652. PMID: 28830826.
      Citations:    
    65. Youssefian L, Vahidnezhad H, Saeidian AH, Sotoudeh S, Zeinali S, Uitto J. Gene-Targeted Next-Generation Sequencing Identifies a Novel CLDN1 Mutation in a Consanguineous Family With NISCH Syndrome. Am J Gastroenterol. 2017 Feb; 112(2):396-398. PMID: 28154377.
      Citations:    
    66. Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Mansouri P, Sotoudeh S, Barzegar M, Mohammadi-Asl J, Karamzadeh R, Abiri M, McCormick K, Fortina P, Uitto J. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity. J Invest Dermatol. 2017 03; 137(3):678-685. PMID: 27884779.
      Citations:    
    67. Vahidnezhad H, Youssefian L, Zeinali S, Saeidian AH, Sotoudeh S, Mozafari N, Abiri M, Kajbafzadeh AM, Barzegar M, Ertel A, Fortina P, Uitto J. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. J Invest Dermatol. 2017 03; 137(3):660-669. PMID: 27899325.
      Citations:    
    68. Vahidnezhad H, Karamzadeh R, Saeidian AH, Youssefian L, Sotoudeh S, Zeinali S, Vasei M, Golnabi F, Baghdadi T, Uitto J. Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability. J Invest Dermatol. 2017 02; 137(2):525-528. PMID: 27756598.
      Citations:    
    69. Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J. KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family. J Invest Dermatol. 2016 09; 136(9):1897-1901. PMID: 27283507.
      Citations:    
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